A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371746



Internal ID22597415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57119830..57119830hg38UCSC Ensembl
chr17:55197191..55197191hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5975913
Supporting Variants
Samples
Known GenesAKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371746
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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